ClinVar

NM_002474.3(MYH11):c.5786+12G>A

Genes:

MYH11:myosin heavy chain 11 [Gene - OMIM - HGNC]
NDE1:nudE neurodevelopment protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.11

Genomic location:

• Chr16: 15714897 (on Assembly GRCh38)
• Chr16: 15808754 (on Assembly GRCh37)

Preferred name:

NM_002474.3(MYH11):c.5786+12G>A

HGVS:

• NC_000016.10:g.15714897C>T
• NG_009299.1:g.147134G>A
• NG_021210.1:g.76631C>T
• NM_001040113.2:c.5807+12G>A
• NM_001040114.2:c.5807+12G>A
• NM_001143979.2:c.948-9294C>T
• NM_002474.3:c.5786+12G>AMANE SELECT
• NM_017668.3:c.948-9294C>TMANE SELECT
• NM_022844.3:c.5786+12G>A
• LRG_1401t1:c.5786+12G>A
• LRG_1401t2:c.5807+12G>A
• LRG_1401:g.147134G>A
• NC_000016.9:g.15808754C>T
• NM_002474.2:c.5786+12G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs748529228

NCBI 1000 Genomes Browser:

rs748529228

Molecular consequence:

• NM_001040113.2:c.5807+12G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001040114.2:c.5807+12G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001143979.2:c.948-9294C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_002474.3:c.5786+12G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_017668.3:c.948-9294C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_022844.3:c.5786+12G>A - intron variant - [Sequence Ontology: SO:0001627]